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Hekimler için-Kardiyomiyopati ve metabolik hastalıklar

lysosomal-storage-disorders-affecting-the-heart-a-review-1İndir
barth-syndrome-connecting-cardiolipin-to-cardiomyopathy-1İndir
cardiomyopathies-in-children-mitochondrial-and-storage-disease-1İndir
cardiomyopathy-in-children-classification-and-diagnosis-1İndir
epidemiology-and-clinical-aspects-of-genetic-cardiomyopathies-1İndir
pediatric-mitochondrial-diseases-and-the-heart-1İndir

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Hekimler için-Gaucher hastalığı

glucocerebrosidaseİndir
gaucher-diseaseİndir
endocrine-and-metabolic-disorders-in-patients-with-gaucher-disease-type-1-a-reviewİndir
current-and-emerging-pharmacotherapy-for-gaucher-diseaseİndir
pharmacological-treatment-of-pediatric-gaucher-diseaseİndir
imaging-of-non-neuronopathic-gaucher-disease-recent-advances-in-quantitative-imaging-and-comprehensive-assessment-of-disease-involvementİndir

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Hekimler için-Tirozinemi tip1

tyrosinemia-type-1İndir
tyrosinemia-type-1-and-symptoms-of-adhd-biochemical-mechanisms-and-implications-for-treatment-and-prognosisİndir
serum-amino-acid-profiling-in-patients-with-alkaptonuria-before-and-after-treatment-with-nitisinoneİndir
nitisinon-adverse-effectİndir
hereditary-tyrosinemia-type-1İndir
evaluation-of-presymptomatic-nitisinone-treatmentİndir
diagnosis-and-treatment-of-tyrosinemia-type-iİndir
clinical-utility-of-nitisinone-for-the-treatment-of-hereditary-tyrosinemia-type-1İndir

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Hekimler için- Fabry hastalığı

consensus-recommendations-for-diagnosis-management-and-treatment-of-fabry-disease-in-paediatric-patientsİndir
anderson-fabry-disease-a-rare-disease-that-mimics-common-cardiac-neurological-renal-and-other-disorders-approach-for-the-differential-diagnosis-and-follow-upİndir
ert-in-fabryİndir
current-and-investigational-therapeutics-for-fabry-diseaseİndir
diagnosis-and-screening-of-patients-with-fabry-diseaseİndir
migalastat-a-review-in-fabry-diseaseİndir
hot-topics-in-fabry-diseaseİndir
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Hekimler için-Dislipidemiler

familial-hypercholesterolemiaİndir
familial-lipoprotein-lipase-deficiencyİndir
abetalipoproteinemiaİndir
approach-to-hypertriglyceridemia-in-the-pediatric-populationİndir
clinical-practice-recommendations-for-pediatric-dyslipidemiaİndir
inherited-metabolic-disorders-and-dyslipidaemiaİndir
management-of-familial-hypercholesterolaemia-in-childhoodİndir
management-of-hypertriglyceridemia-common-questions-and-answersİndir

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Hekimler için- Fenilketonüri (PKU)

phenylalanine-hydroxylase-deficiencyİndir
consensus-guideline-for-the-diagnosis-and-treatment-of-tetrahydrobiopterin-bh4-deficienciesİndir
the-complete-european-guidelines-on-pkuİndir
the-phenylketonuria-patient-a-recent-dietetic-therapeutic-approachİndir
pku-dietary-handbook-to-accompany-pku-guidelines-1İndir
treatment-options-and-dietary-supplements-for-patients-with-phenylketonuriaİndir
phenylketonuria-current-treatments-and-future-developmentsİndir
international-best-practice-for-the-evaluation-of-responsiveness-to-sapropterin-dihydrochloride-in-patients-with-phenylketonuriaİndir
the-genetic-landscape-and-epidemiology-of-phenylketonuriaİndir

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Hekimler için-Perioperatif metabolik hastalıklara yaklaşım

a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiencyİndir
anesthetic-management-of-a-patient-with-methylmalonic-acidemia-a-case-reportİndir
anesthetic-management-of-patients-with-inborn-errors-of-metabolismİndir
fabry-disease-and-general-anesthesia-a-case-report-and-literature-reviewİndir
management-of-children-with-metabolic-disease-undergoing-surgeryprocedureİndir
metabolic-disorders-and-anesthesiaİndir
perioperative-care-of-children-with-inherited-metabolic-disordersİndir
perioperative-management-of-a-child-with-glucose-transporter-type-1-deficiency-syndrome-a-case-reportİndir
perioperative-management-of-children-with-urea-cycle-disordersİndir
anesthetic-management-of-a-child-with-propionic-acidemia-complicated-by-bacteremia-and-severe-acute-respiratory-syndrome-coronavirus-2-1İndir
anesthetic-management-for-pediatric-liver-transplantation-in-a-patient-with-propionic-acidemia-a-case-reportİndir
acute-hepatic-porphyria-and-anaesthesia-a-practical-approach-to-the-prevention-and-management-of-acute-neurovisceral-attacksİndir

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